ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2602dup (p.Ile868fs)

dbSNP: rs2149113459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941689 SCV002230747 pathogenic not provided 2021-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile868Asnfs*15) in the CFH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFH are known to be pathogenic (PMID: 11170896, 14978182, 16621965, 23870792, 25188723). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV005002715 SCV005632089 likely pathogenic Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-02-16 criteria provided, single submitter clinical testing

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